Skip to main content
SpringerLink
Log in

Disorders of Sex Development

  • Chapter
  • First Online:
Urological Emergencies

Part of the book series: Current Clinical Urology ((CCU))

  • 1430 Accesses

Abstract

Any infant in whom there is discordance between the appearance of the external genitalia and the karyotype may be considered to have ambiguous genitalia or a disorder of sex development (DSD) condition. For both medical and social reasons, DSD are considered urgent urological conditions to evaluate and treat. The initial medical evaluation and treatment are focused on an evaluation of the underlying condition and a determination of the most appropriate gender of rearing for the infant. Careful communication via a DSD multidisciplinary team with the family is essential in cases of ambiguous genitalia. The ultimate success for an infant with ambiguous genitalia may depend as much on the quality and extent of psychosocial support as on sophisticated medical and surgical management.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

References

  1. Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child. 2006;91(7):554–63.

    Article  PubMed  CAS  Google Scholar 

  2. Thyen U, Lanz K, Holterhus PM, Hiort O. Epidemiology and initial management of ambiguous genitalia at birth in Germany. Horm Res. 2006;66(4):195–203.

    Article  PubMed  CAS  Google Scholar 

  3. Ahmed SF, Khwaja O, Hughes IA. The role of a clinical score in the assessment of ambiguous genitalia. BJU Int. 2000;85(1):120–4.

    Article  PubMed  CAS  Google Scholar 

  4. Breslow NE, Takashima JR, Whitton JA, Moksness J, D’Angio GJ, Green DM. Second malignant neoplasms following treatment for Wilm’s tumor: a report from the National Wilms’ Tumor Study Group. J Clin Oncol. 1995;13(8):1851–9.

    PubMed  CAS  Google Scholar 

  5. Gambino J, Caldwell B, Dietrich R, Walot I, Kangarloo H. Congenital disorders of sexual differentiation: MR findings. AJR Am J Roentgenol. 1992;158(2):363–7.

    Article  PubMed  CAS  Google Scholar 

  6. Kocova M, Siegel SF, Wenger SL, Lee PA, Nalesnik M, Trucco M. Detection of Y chromosome sequences in a 45, X/46, XXq—patient by Southern blot analysis of PCR-amplified DNA and fluorescent in situ hybridization (FISH). Am J Med Genet. 1995;55(4):483–8.

    Article  PubMed  CAS  Google Scholar 

  7. Rey RA, Belville C, Nihoul-Fekete C, et al. Evaluation of gonadal function in 107 intersex patients by means of serum antimullerian hormone measurement. J Clin Endocrinol Metab. 1999;84(2):627–31.

    Article  PubMed  CAS  Google Scholar 

  8. Forest MG, Sizonenko PC, Cathiard AM, Bertrand J. Hypophyso-gonadal function in humans during the first year of life. 1. Evidence for testicular activity in early infancy. J Clin Invest. 1974;53(3):819–28.

    Article  PubMed  CAS  Google Scholar 

  9. Almaguer MC, Saenger P, Linder BL. Phallic growth after hCG. A clinical index of androgen responsiveness. Clin Pediatr. 1993;32(6):329–33.

    Article  CAS  Google Scholar 

  10. Barthold JS. Disorders of sex differentiation: a pediatric urologist’s perspective of new terminology and recommendations. J Urol. 2011;185(2):393–400.

    Article  PubMed  Google Scholar 

  11. Migeon CJ, Wisniewski AB, Brown TR, et al. 46, XY intersex individuals: phenotypic and etiologic classification, knowledge of condition, and satisfaction with knowledge in adulthood. Pediatrics. 2002;110(3):e32.

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

We recognize the major contributions made to this chapter by the previous author Richard W. Grady.

Author information

Authors and Affiliations

  1. Department of Pediatric Endocrinology, University of Washington School of Medicine, Seattle Children’s Hospital, Seattle, WA, USA

    Patricia Y. Fechner

  2. Department of Urology, University of Washington, School of Medicine and Seattle Children’s Hospital, 4800 Sandpoint Way NE, Seattle, WA, 98105, USA

    Margarett Shnorhavorian

Authors
  1. Patricia Y. Fechner
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Margarett Shnorhavorian
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Margarett Shnorhavorian .

Editor information

Editors and Affiliations

  1. School of Medicine, Harborview Medical Center, University of Washington, 1959 NE Pacific Street Box 356510, Seattle, 98195, Washington, USA

    Hunter Wessells

Rights and permissions

Reprints and permissions

Copyright information

© 2013 Springer Science+Business Media New York

About this chapter

Cite this chapter

Fechner, P.Y., Shnorhavorian, M. (2013). Disorders of Sex Development. In: Wessells, H. (eds) Urological Emergencies. Current Clinical Urology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-423-4_23

Download citation

  • DOI: https://doi.org/10.1007/978-1-62703-423-4_23

  • Published:

  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-62703-422-7

  • Online ISBN: 978-1-62703-423-4

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation